Canonical Allele Identifier: CA64532173

Gene: BMPR2

Linked Data

• dbSNP Id: rs992934350
• gnomAD v3: 2-202464720-T-G
• gnomAD v4: 2-202464720-T-G
• MyVariant Identifiers: chr2:g.203329443T>G (hg19) ; chr2:g.202464720T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202464720T>G , CM000664.2:g.202464720T>G	GRCh38
NC_000002.11:g.203329443T>G , CM000664.1:g.203329443T>G	GRCh37
NC_000002.10:g.203037688T>G	NCBI36
NG_009363.1:g.93394T>G , LRG_712:g.93394T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.77-89T>G MANE Select	ENSP00000363708.4:n.77-89T>G
ENST00000374574.2:c.77-89T>G	ENSP00000363702.2:n.77-89T>G
ENST00000374580.8:c.77-89T>G	ENSP00000363708.4:n.77-89T>G
NM_001204.6:c.77-89T>G , LRG_712t1:c.77-89T>G	NP_001195.2:n.77-89T>G
XM_011511687.1:c.77-89T>G	XP_011509989.1:n.77-89T>G
XM_011511688.1:c.77-89T>G	XP_011509990.1:n.77-89T>G
NM_001204.7:c.77-89T>G MANE Select	NP_001195.2:n.77-89T>G